| 000 | 01830 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250517113351.0 | ||
| 264 | 0 | _c20171120 | |
| 008 | 201711s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2016-103996 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aArnaud, Pauline | |
| 245 | 0 | 0 |
_aHomozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _c02 2017 |
||
| 300 |
_a100-103 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibrillin-1 _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMarfan Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPathology, Molecular |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aHanna, Nadine | |
| 700 | 1 | _aAubart, Mélodie | |
| 700 | 1 | _aLeheup, Bruno | |
| 700 | 1 | _aDupuis-Girod, Sophie | |
| 700 | 1 | _aNaudion, Sophie | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aMilleron, Olivier | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aBal, Laurence | |
| 700 | 1 | _aEdouard, Thomas | |
| 700 | 1 | _aCollod-Beroud, Gwenaëlle | |
| 700 | 1 | _aLangeois, Maud | |
| 700 | 1 | _aSpentchian, Myrtille | |
| 700 | 1 | _aGouya, Laurent | |
| 700 | 1 | _aJondeau, Guillaume | |
| 700 | 1 | _aBoileau, Catherine | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 54 _gno. 2 _gp. 100-103 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2016-103996 _zAvailable from publisher's website |
| 999 |
_c26379084 _d26379084 |
||